RICKETS AND OSTEOMALACIA

1. Rickets & Osteomalacia
Dr.Priyank Uniyal
SR AIIMS Rishikesh

2. Sunlight as a source of vitamin D
Adequate supplies of
vitamin D3 can be
synthesized with sufficient
exposure to solar
ultraviolet B radiation
Melanin, clothing or
sunscreens that absorb
UVB will reduce cutaneous
production of vitamin D3

5. Rickets & Osteomalacia
These are different expression of the same disease.
Lack of available calcium and phosphorus ( or both) for
mineralization of newly formed osteoid .
Rickets-
– Occur in children
– only before fusion of epiphysis
– Leads to softening of bone & deformity
Osteomalacia- occur in adult
-softening of bone

6. Rickets & Osteomalacia
Etiology
Deficiency (vit – D or phosphate)
– Deficient intake in diet
– GI disease
Renal causes
– Vit – D resistent
– Vit –D dependent( type – I & II)
– Renal tubular acidosis
– CRF
Other -Chronic use of anticonvulsant drugs
-fibrous dysplasia and neurofibromatosis
-fibrous or connective tissue tumor

7. Normal bone growth
THERE ARE 4 ZONES :
1.ZONE OF RESTING CARTILAGE : 1 layer
2.ZONE OF PROLIFERATING CART. : 6 layers
3.zone OF PROVISIONAL CALCIFICATION "epiphyseal line " :
the cart. cells in this layer become mature, they contain alkaline phosphatase 
release the phosphate in the matrix which already contains ca. & po4 in solution 
increase production of ca. & po4  precipitation of ca.phosphate in the matrix
around the cartilage cells  death of the cells.
4.ZONE OF BONE FORMATION :
The layer of prov. calc. is invaded by capillaries and osteoblast which deposit a layer of
organic bone matrix "osteoid tis.“  rapidly mineralized and the calcified cartilage
ultimately replaced by bone.

9. PATHOLOGY
1. The mature cartilage cells will not die and the
proliferating zone will be formed of many layers and
invades the adjacent zone of of provis. calc.- irregularity
of epiphyseal line.
2. The prov. calc. zone and newly formed ost. tis. will fail to
calcify or will calcified irregularly.
 wide irregular frayed zone of non rigid tis. " RACHITIC
METAPHSIS " is produced.
3. In the shaft the preformed bone is replaced by
uncalcified ost.
 soft rarified cortical bone
 bone deformities & green stick fractures.

10. Rickets
 Disease of infancy &childhood
Dietary deficiency & GI disease are the common causes
Rare before 6 months
 Commonly develop b/w 6 mth - 3yr

11. Rickets
Clinical feature
General
 Failure to thrive
 Apathetic , irritable
 Shorter, lower body weight and anemic
 Excessive sweating particularly at hand & face

12. Rickets
Clinical feature
Head
craniotabes(soft skull)
frontal bossing
Widening of suture,
persistent fontanelae
Delayed dentition, caries

13. Rickets
Clinical feature
Chest
Rachitic rosary
Harrison groove
Pigeon chest
Respiratory infection and
atelectasis

14. Rickets
Characteristic feature
Widening of wrist, knee and ankle due to physeal over
growth

15. Rickets
Characteristic feature
 Abdomen
- prominent
 muscle weakness (floppy baby, delayed walking)
 Pelvis - narrow inlet

16. Rickets
Characteristic feature
Deformity
Toddlers: Bowed legs
(genu varum)

17. Rickets
Characteristic feature
Deformity
Older children: Knock-knees
(genu valgum)

18. Rickets
Characteristic feature
Deformity
windswept knees

19. Rickets
Characteristic feature
Thoracic kyphosis
increased tendency for fracture, especially green stick #
Growth disturbance
Bone pain or tenderness
tetany
Sign of PEM

20. Rickets
Clinical evaluation
Dietary history
Maternal risk factors
Drugs
GI disease
Renal disease

21. Rickets
Evaluation
Initial lab. test
– Serum Ca, S.Ph, alkaline phosphatase, PTH , 25 Vit-D, 1, 25 Vit-D,
creatinine

22. Rickets
Vit-D deficiency vit-D resistant
Acquired Inherited
Muscular weakness No muscular weakness
Normal growth rate Growth seldom become N
Serum Ph3 comes N Serum Ph3 never comes
with t/t normal

23. Rickets
Radiographic feature

24. Rickets
Radiographic feature

25. Rickets
Radiographic feature

26. Rickets
Diagnosis
History & physical examination finding
Radiographic abnormality
Special etiology confirmed with lab. test

27. Rickets
Biochemical finding
Most specific test for vit–D deficiency is 25 vit–D
PTH is under -ve feedback of Calcium
● Decrease serum Ca = increase
PTH
Alkaline phosphatase increase in all cases of rickets and
osteomalacia

28. Rickets1) Biochemical finding
Category Serum
Calcium
Serum
Ph3
Serum
Alkaline
Ph3ase
PTH 25-HC 1, 25-
DHC
Tubular
Reabsrp.
Of Ph3
Urinary
calcium
Vit-D deficiency Low to
normal
Low High High Low Low Low low
Ph3 deficiency normal Low High normal normal normal High High
Gastrointestinal Low Low High High Low to
Normal
Low to
Normal
Low Low
Vit- D resistant
phosphoturia
Normal Low High Normal Normal Norma
l
Low Normal
Type-I dependent Low Low High High Normal Low Low low
Type –II vit-D
dependent
low low High High N- High N- High Low low
Renal tubular acidosis Low Low High High N –High N- High Low high

30. Osteomalacia
Clinical feature
 Insidious course
 Pt may present with bone pain, backache and bone
tenderness
 proximal muscle weakness
 Fracture may be first sign of Osteomalacia
 Vertebral collapse, kyphosis

31. Osteomalacia
Clinical feature
Long standing case sign of secondary hyperparathyroidism
●
Depression
●
Polyuria
●
Increased thirst
●
Constipation
●
Nephrolithiasis
●
?Peptic Ulcer Disease

32. Osteomalacia
X- ray
Looser zone

33. Osteomalacia
X- ray -Looser zone

34. Osteomalacia
X- ray
lateral indentation of the
acetabulam (trefoil pelvis)
Biconcave vertebrae

35. Osteomalacia
Long standing case sign of secondary
hyperparathyroidism

36. Osteomalacia
Long standing of Osteomalacia
Cortical erosion
Pathological #
Brown tumor

37. Osteomalacia
Deferential diagnosis
1. Osteomalacia osteoporosis
Unwell well
Generalized chronic ache pain after #
Muscles weakness muscle normal
Looser’s zone absent
Ph3 decrease normal
Alk. Ph3ase increase normal

38. Rickets & Osteomalacia
Treatment
Depending on etiology, severity and metabolic
abnormality
In general the combination of Vit-D, Ca and phosphate

40. Rickets
Treatment
Depending on etiology, severity and metabolic
abnormality
In general the combination of Vit-D, Ca and phosphate
Orthopedic measure require in very less no. of cases
1 mg of vit-D = 40,000 IU
1 IU = 0.025 microgram

41. Rickets
Treatment
1. Vit-D deficiency state
Vit –D 300,000-600,000 IU
Im /Orally in a day (2-4dose)
Vit –D 2,000 – 5,000 I.U./day 4- 6 wk
Calcium --- 1g/ day
 General nutrition , sunlight ?
Followed by
400 IU / day

42. Rickets
Treatment
2. Absorption defect
 Vit- D 1,500 – 25,000 IU / day
 Calcium 1 g/ day
 Treatment of underling pathology; where appropriat, low
fat or gluten free diet

43. Rickets
Treatment
3. Vit – D resistant
Vit – D 20,000- 60,000 IU/day
Or dihydrotachysterol (dose 1/3 of vit D)
Neutral phosphate-1.5- 6 g/ day (4-5 dose)
Calcium – 1 g / day

44. Rickets
Treatment
4. Vit – Dependent type – I
 1, 25 Vit – D 250 IU – 800 IU /day
 Calcium 1 g/day

45. Rickets
Treatment
5. Vit – Dependent type – II
Respond with high dose of
 1, 25 Vit – D
 1,000- 20,000 IU /day for 3-6 mth
 Calcium - - 1-3 g / day
i/v Ca with oral
supplement

46. Evaluation of treatment
Serum and urinary Ca measurement
 Most efficacious method to monitor t/t resolution of Vit –
D deficiency
 Normal 24 hr urinary Ca excretion = 100 – 250 mg
When serum alkaline Ph3ase Inorganic phosphate
comes normal
– X- ray show sign of healing

47. Evaluation hazards
●
Serum Ca > 11mg/dl
●
Urinary Ca excretion > 250 mg / 24 hr
increase chance of
soft tissue calcification & nephrocalcinosis

48. TOXICITY
• Hypervitaminosis D
causes hypercalcemia, which manifest as:
Nausea & vomiting
Excessive thirst & polyuria
Severe itching
Joint & muscle pains
Disorientation & coma.

49. Vitamin D Toxicity
Calcification of soft tissue
Lungs, heart, blood vessels
Hardening of arteries (calcification)
Hypercalcemia
Normal is ~ 10 mg/dl
Excess blood calcium leads to stone formation in
kidneys
Lack of appetite
Excessive thirst and urination

50. Orthopedic measurement
Deficiency rickets
If t/t given earlier, deformity correct spontaneously

51. Orthopedic measurement
Long standing case and Vit-D resistant rickets
Mild deformity----------brace
●
(Mermaid splint for knock knee)
If deformity is mark----osteotomy

53. HOW SHOULD WE ASSESS VITAMIN D STATUS?
Vitamin D2 half life <24 hrs
Vitamin D3 half life <21-30 days

54. WHO SHOULD BE TESTED FOR VITAMIN D
DEFICIENCY

57. HOW DO WE TREAT?

59. Thank You